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190 related items for PubMed ID: 24859511

  • 1. A rare case of familial Cushing's syndrome with a common presentation of weight gain due to a mutation of the PRKAR1A gene causing isolated primary pigmented nodular adrenocortical disease.
    Poukoulidou T, Maiter D, Bertherat J, Beauloye V.
    J Pediatr Endocrinol Metab; 2014 Sep; 27(9-10):1005-9. PubMed ID: 24859511
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  • 4. Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease.
    Groussin L, Jullian E, Perlemoine K, Louvel A, Leheup B, Luton JP, Bertagna X, Bertherat J.
    J Clin Endocrinol Metab; 2002 Sep; 87(9):4324-9. PubMed ID: 12213893
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  • 5. [A girl with Cushing's syndrome due to primary pigmented nodular adrenocortical disease].
    Bocca G, van Mil EG, Voorhoeve PG, Wijnaendts LC, Delemarre-van de Waal HA.
    Ned Tijdschr Geneeskd; 2006 Oct 28; 150(43):2390-3. PubMed ID: 17100132
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  • 6. A novel PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease and the Carney complex.
    Peck MC, Visser BC, Norton JA, Pasche L, Katznelson L.
    Endocr Pract; 2010 Oct 28; 16(2):198-204. PubMed ID: 19833579
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  • 7. Detection of new potentially pathogenic mutations in two patients with primary pigmented nodular adrenocortical disease (PPNAD) - case reports with literature review.
    Pasternak-Pietrzak K, Stratakis CA, Moszczyńska E, Lecka-Ambroziak A, Staniszewski M, Wątrobińska U, Lyssikatos C, Prokop-Piotrkowska M, Grajkowska W, Pronicki M, Szalecki M.
    Endokrynol Pol; 2018 Oct 28; 69(6):675-681. PubMed ID: 30259502
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  • 8. Adrenal pathophysiology: lessons from the Carney complex.
    Groussin L, Cazabat L, René-Corail F, Jullian E, Bertherat J.
    Horm Res; 2005 Oct 28; 64(3):132-9. PubMed ID: 16192737
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  • 9. Bilateral Adrenocortical Nodular Disease and Cushing's Syndrome.
    Bouys L, Violon F, Louiset E, Sibony M, Lefebvre H, Bertherat J.
    J Clin Endocrinol Metab; 2024 Sep 16; 109(10):2422-2432. PubMed ID: 38888184
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  • 10. Hormonal, Radiological, NP-59 Scintigraphy, and Pathological Correlations in Patients With Cushing's Syndrome Due to Primary Pigmented Nodular Adrenocortical Disease (PPNAD).
    Vezzosi D, Tenenbaum F, Cazabat L, Tissier F, Bienvenu M, Carrasco CA, Laloi-Michelin M, Barrande G, Lefebvre H, Hiéronimus S, Tabarin A, Bertagna X, Legmann P, Vantyghem MC, Bertherat J.
    J Clin Endocrinol Metab; 2015 Nov 16; 100(11):4332-8. PubMed ID: 26390100
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  • 11. [A pedigree study of a patient with primary pigmented nodular adrenocortical disease and familial gene mutation].
    Ran H, Ma X, Wang Q, Xie Z, Ding Y, Qin G.
    Zhonghua Nei Ke Za Zhi; 2014 May 16; 53(5):398-402. PubMed ID: 25146409
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  • 12. Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation.
    Storr HL, Metherell LA, Dias R, Savage MO, Rasmussen AK, Clark AJ, Main KM.
    Horm Res Paediatr; 2010 May 16; 73(2):115-9. PubMed ID: 20190548
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  • 13. Carney Complex Complicated with Primary Pigmented Nodular Adrenocortical Disease without Cushing's Syndrome Recurrence for Five Years after Unilateral Adrenalectomy.
    Tsurutani Y, Kiriyama K, Kondo M, Hasebe M, Sata A, Mizuno Y, Sugisawa C, Saito J, Nishikawa T.
    Intern Med; 2022 May 16; 61(2):205-211. PubMed ID: 35034934
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  • 14. Primary pigmented nodular adrenocortical disease (PPNAD): single centre experience.
    Memon SS, Thakkar K, Patil V, Jadhav S, Lila AR, Fernandes G, Bandgar TR, Shah NS.
    J Pediatr Endocrinol Metab; 2019 Apr 24; 32(4):391-397. PubMed ID: 30875328
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  • 15. Case report of familial Carney complex due to novel frameshift mutation c.597del C (p.Phe200LeufsX6) in PRKAR1A.
    Sasaki A, Horikawa Y, Suwa T, Enya M, Kawachi S, Takeda J.
    Mol Genet Metab; 2008 Nov 24; 95(3):182-7. PubMed ID: 18760947
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  • 16. The clinical characteristics and pathogenic variants of primary pigmented nodular adrenocortical disease in 210 patients: a systematic review.
    Sun J, Ding L, He L, Fu H, Li R, Feng J, Dong J, Liao L.
    Front Endocrinol (Lausanne); 2024 Nov 24; 15():1356870. PubMed ID: 39006359
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  • 17. A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds.
    Groussin L, Horvath A, Jullian E, Boikos S, Rene-Corail F, Lefebvre H, Cephise-Velayoudom FL, Vantyghem MC, Chanson P, Conte-Devolx B, Lucas M, Gentil A, Malchoff CD, Tissier F, Carney JA, Bertagna X, Stratakis CA, Bertherat J.
    J Clin Endocrinol Metab; 2006 May 24; 91(5):1943-9. PubMed ID: 16464939
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  • 18. Children with Cushing's syndrome: Primary Pigmented Nodular Adrenocortical Disease should always be suspected.
    da Silva RM, Pinto E, Goldman SM, Andreoni C, Vieira TC, Abucham J.
    Pituitary; 2011 Mar 24; 14(1):61-7. PubMed ID: 20924687
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  • 19. Primary pigmented nodular adrenocortical disease and Cushing's syndrome.
    Horvath A, Stratakis C.
    Arq Bras Endocrinol Metabol; 2007 Nov 24; 51(8):1238-44. PubMed ID: 18209861
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  • 20. Carney complex due to a novel pathogenic variant in the PRKAR1A gene - a case report.
    Ferreira SH, Costa MM, Rios E, Santos Silva R, Costa C, Castro-Correia C, Fontoura M.
    J Pediatr Endocrinol Metab; 2019 Feb 25; 32(2):197-202. PubMed ID: 30699069
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